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Journal of Medical Case Reports
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Case report
Gyrate atrophy of the choroid and retina with hyper-ornithinemia
responsive to vitamin B6: a case report
Alireza Javadzadeh*
1
and Davood Gharabaghi
2
Address:
1
Retina Service, Department of Ophthalmology, Nikookari Hospital – Drug of Applied research center, Tabriz University of Medical
Sciences, Tabriz, Iran and
2
Strabismus Service, Department of Ophthalmology, Nikookari Hospital, Tabriz University of Medical Sciences, Tabriz,
Iran
Email: Alireza Javadzadeh* - ; Davood Gharabaghi -
* Corresponding author
Abstract
Background: Gyrate atrophy of the retina and choroid is a rare autosomal recessive inherited
disease, characterized by progressive chorioretinal atrophy that results in progressive
deterioration of peripheral and night vision and leading to blindness.
Case presentation: This report presents a case of a 28-year-old man consulting for a progressive
fall of visual acuity with hemeralopia. Eye fundoscopy showed regions of confluent rounded
chorioretinal atrophy. The visual field and retinal angiography were altered. A high level of plasma
ornithine (629 nmol/mL) was detected and a diagnosis of gyrate atrophy of the retina and choroid
was made. The patient was treated with high dose Pyridoxine supplement (300 mg/d for 6 months)
and the ornithine level of his serum was successfully reduced.

Conclusion: The exact mechanism of chorioretinal atrophy in hyper-ornithinemia is not known
and a small percentage of the affected people respond to Vitamin B6 supplementation.
Background
Gyrate atrophy (GA) of the Choroid and Retina was first
described by Fuchs in 1896.[1] Human hereditary defi-
ciency of ornithine aminotransferase (OAT) activity is
transmitted as an autosomal recessive trait,[2] and results
in 10 to 20-fold increased level of plasma ornithine and is
shown to be associated with GA.[3] The initial complaint
of decreasing visual acuity and night vision is followed by
the appearance of sharply demarcated, circular areas of
chorioretinal atrophy with hyperpigmented margins in
the midperiphery of the fundus. This appears through the
first three decades of life and leads to blindness in the
fourth to seventh decades. Myopia, posterior subcapsular
cataracts, and vitreous opacities may also be present.[4]
Ornithine delta aminotransferase (OAT) is a mitochon-
drial nuclear encoded pyridoxal phosphate enzyme that
catalyzes the interconversion of ornithine glutamate and
proline. Gyrate atrophy is a genetic disorders with
increased frequency in the Finnish population with an
incidence of one case per 50,000 individuals in Fin-
land.[4] Valle in a review in 2001 revealed that amongst
the over 150 biochemically documented cases of GA,
about one third of them were from Finland and only
seven of them (less than 5%) had been responsive to ther-
apy with Vitamin B6 dietary supplementation.[5]
We report a rare case of a GA, in which the patient's high
level of serum ornithine was responsive to therapy with
Published: 12 June 2007

Journal of Medical Case Reports 2007, 1:27 doi:10.1186/1752-1947-1-27
Received: 18 January 2007
Accepted: 12 June 2007
This article is available from: />© 2007 Javadzadeh and Gharabaghi; licensee BioMed Central Ltd.
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Journal of Medical Case Reports 2007, 1:27 />Page 2 of 3
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vitamin B6 dietary supplement and was reduced to near
normal level.
Case report
A 28-year-old man presented with the complaint of grad-
ual visual loss during the past five years. He had noticed
night vision difficulties since the age of 15 years but did
not seek medical advice. His visual acuity in each eye was
at the level of counting fingers; his refractive error meas-
ured -6.00-1.50 × 180 for the right eye and -5.00-2.00 ×
170 for the left eye. His best corrected visual acuity was 3/
10 in the right eye and 1/10 in the left eye. Bilateral 2+
posterior subcapsular cataracts were present. Fundus
examination of both eyes revealed sharply demarcated
areas of choroid and retinal atrophy in gyrate shape and
involving the midperiphery with the macula not affected.
A tilted disc in right eye was also presented (fig 1). Clinical
diagnosis identified gyrate atrophy of the choroid and ret-
ina. He had mild muscle weakness, but his intelligence
and electroencephalography (EEG) were normal. Ami-
noacid analysis revealed a high serum ornithine level (629
nmol/mL), with the normal range being 28-110 nmol/
mL. Arginine, creatinine, lysine and glutamine levels in

the serum were within the normal range. He was treated
with vitamin B6 at a dose of 300 mg/day for six months.
This dietary supplementation successfully reduced his
serum ornithine level by more than 50% to 293 nmol/
mL.
Discussion
OTA deficiency is characterized by progressive degenera-
tion of the choroid and retina is inherited an autosomal
recessive pattern. In accordance with its ophthalmoscopic
appearance, it is called gyrate atrophy of choroid and ret-
ina, and there is a mild leakage of fluorescein at the mar-
gin of the healthy-appearing retina, where it abuts the
gyrate lesions (fig 2). Its main manifestation is a gradual
loss of vision, night blindness and tunnel vision, with
subsequent development of posterior subcapsular cataract
by the second decade,[6] progressive constriction of the
visual field and eventual loss of central vision in the
fourth to fifth decades of life.[3] The mechanism of GA
remains unknown; however, the adverse effects of creati-
nine or pyrroline-5-carboxilate (P5C) deficiency on reti-
nal function are thought to be a causative factor.[7] The
Fluorescein angiogram shows slight leakage from the margins of the choriocapillaris neighboring the atrophic areaFigure 2
Fluorescein angiogram shows slight leakage from the margins of the choriocapillaris neighboring the atrophic area. The poste-
rior pole was normal.
Fundus view of the right eye shows the peripheral and peri-papillary chorioretinal atrophic areasFigure 1
Fundus view of the right eye shows the peripheral and peri-
papillary chorioretinal atrophic areas. Macula is speared.
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Journal of Medical Case Reports 2007, 1:27 />Page 3 of 3
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administration of pharmacologic doses of vitamin B6 in a
disorder caused by decreased activity of a B6-dependant
enzyme is an established procedure.[8] Weleber and Ken-
naway in a clinical trial of vitamin B6 for gyrate atrophy
reported that 3 out of 7 patients responded to oral B6 sup-
plementation with over 50% reduction of serum orni-
thine.[7] Among approximately 70 Finnish GA cases
reported to date, none have been responsive to vitamin
B6.[9] Of the remaining studies reported worldwide
(from US, Canada, Japan, Italy, Germany, The Nether-
lands and Israel) only 7 have been reported to have
responded to vitamin B6 treatment.[10] Our patient is a
rare case of GA in that his serum ornithine level decreased
by more than 50% from 629 nmol/mL to 293 nmol/mL
after administration of 300 mg/day vitamin B6 as a die-
tary supplementation.
Competing interests
The author(s) declare that they have no competing inter-
ests.

Authors' contributions
The authors were involved in patient management or writ-
ing of the manuscript.
Acknowledgements
Full verbal and written consent has been obtained from the patient for sub-
mission of this manuscript for publication. The authors declare that no
funding was required for the writing and submission of the manuscript.
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